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A case of Pfeiffer syndrome.

Authors
Park, MS; Yoo, JE; Chung, J; Yoon, SH
Citation
Journal of Korean medical science, 21(2):374-378, 2006
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
Abstract
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
MeSH terms
Acrocephalosyndactylia/diagnosis*Acrocephalosyndactylia/geneticsAcrocephalosyndactylia/radiographyAcrocephalosyndactylia/surgeryFemaleHumansInfant, NewbornKorea
DOI
10.3346/jkms.2006.21.2.374
PMID
16614535
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Neurosurgery
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
박, 문성유, 재은윤, 수한
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